ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1018C>G (p.Pro340Ala)

gnomAD frequency: 0.00001  dbSNP: rs745338439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001206773 SCV001378099 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 426 of the ACD protein (p.Pro426Ala). This variant is present in population databases (rs745338439, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ACD-related conditions. ClinVar contains an entry for this variant (Variation ID: 937700). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002375144 SCV002686767 uncertain significance Inborn genetic diseases 2023-09-18 criteria provided, single submitter clinical testing The p.P426A variant (also known as c.1276C>G), located in coding exon 10 of the ACD gene, results from a C to G substitution at nucleotide position 1276. The proline at codon 426 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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